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Protein

Sodium channel protein type 3 subunit alpha

Gene

SCN3A

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na+ ions may pass in accordance with their electrochemical gradient.

GO - Molecular functioni

  • sodium ion binding Source: Ensembl
  • voltage-gated sodium channel activity Source: UniProtKB

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Ion channel, Sodium channel, Voltage-gated channel

Keywords - Biological processi

Ion transport, Sodium transport, Transport

Keywords - Ligandi

Sodium

Enzyme and pathway databases

ReactomeiR-HSA-445095. Interaction between L1 and Ankyrins.
R-HSA-5576892. Phase 0 - rapid depolarisation.

Names & Taxonomyi

Protein namesi
Recommended name:
Sodium channel protein type 3 subunit alpha
Alternative name(s):
Sodium channel protein brain III subunit alpha
Sodium channel protein type III subunit alpha
Voltage-gated sodium channel subtype III
Voltage-gated sodium channel subunit alpha Nav1.3
Gene namesi
Name:SCN3A
Synonyms:KIAA1356, NAC3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

HGNCiHGNC:10590. SCN3A.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 123123CytoplasmicSequence analysisAdd
BLAST
Transmembranei124 – 14724Helical; Name=S1 of repeat ISequence analysisAdd
BLAST
Topological domaini148 – 1558ExtracellularSequence analysis
Transmembranei156 – 17520Helical; Name=S2 of repeat ISequence analysisAdd
BLAST
Topological domaini176 – 18813CytoplasmicSequence analysisAdd
BLAST
Transmembranei189 – 20719Helical; Name=S3 of repeat ISequence analysisAdd
BLAST
Topological domaini208 – 2136ExtracellularSequence analysis
Transmembranei214 – 23320Helical; Voltage-sensor; Name=S4 of repeat ISequence analysisAdd
BLAST
Topological domaini234 – 24815CytoplasmicSequence analysisAdd
BLAST
Transmembranei249 – 27325Helical; Name=S5 of repeat ISequence analysisAdd
BLAST
Topological domaini274 – 400127ExtracellularSequence analysisAdd
BLAST
Transmembranei401 – 42626Helical; Name=S6 of repeat ISequence analysisAdd
BLAST
Topological domaini427 – 754328CytoplasmicSequence analysisAdd
BLAST
Transmembranei755 – 77925Helical; Name=S1 of repeat IISequence analysisAdd
BLAST
Topological domaini780 – 79011ExtracellularSequence analysisAdd
BLAST
Transmembranei791 – 81424Helical; Name=S2 of repeat IISequence analysisAdd
BLAST
Topological domaini815 – 8228CytoplasmicSequence analysis
Transmembranei823 – 84220Helical; Name=S3 of repeat IISequence analysisAdd
BLAST
Topological domaini843 – 8486ExtracellularSequence analysis
Transmembranei849 – 86921Helical; Voltage-sensor; Name=S4 of repeat IISequence analysisAdd
BLAST
Topological domaini870 – 88415CytoplasmicSequence analysisAdd
BLAST
Transmembranei885 – 90521Helical; Name=S5 of repeat IISequence analysisAdd
BLAST
Topological domaini906 – 95853ExtracellularSequence analysisAdd
BLAST
Transmembranei959 – 98426Helical; Name=S6 of repeat IISequence analysisAdd
BLAST
Topological domaini985 – 1201217CytoplasmicSequence analysisAdd
BLAST
Transmembranei1202 – 122524Helical; Name=S1 of repeat IIISequence analysisAdd
BLAST
Topological domaini1226 – 123813ExtracellularSequence analysisAdd
BLAST
Transmembranei1239 – 126426Helical; Name=S2 of repeat IIISequence analysisAdd
BLAST
Topological domaini1265 – 12706CytoplasmicSequence analysis
Transmembranei1271 – 129222Helical; Name=S3 of repeat IIISequence analysisAdd
BLAST
Topological domaini1293 – 12964ExtracellularSequence analysis
Transmembranei1297 – 131822Helical; Voltage-sensor; Name=S4 of repeat IIISequence analysisAdd
BLAST
Topological domaini1319 – 133719CytoplasmicSequence analysisAdd
BLAST
Transmembranei1338 – 135922Helical; Name=S5 of repeat IIISequence analysisAdd
BLAST
Topological domaini1360 – 144182ExtracellularSequence analysisAdd
BLAST
Transmembranei1442 – 146827Helical; Name=S6 of repeat IIISequence analysisAdd
BLAST
Topological domaini1469 – 152153CytoplasmicSequence analysisAdd
BLAST
Transmembranei1522 – 154524Helical; Name=S1 of repeat IVSequence analysisAdd
BLAST
Topological domaini1546 – 155611ExtracellularSequence analysisAdd
BLAST
Transmembranei1557 – 158024Helical; Name=S2 of repeat IVSequence analysisAdd
BLAST
Topological domaini1581 – 15866CytoplasmicSequence analysis
Transmembranei1587 – 161024Helical; Name=S3 of repeat IVSequence analysisAdd
BLAST
Topological domaini1611 – 162010ExtracellularSequence analysis
Transmembranei1621 – 164222Helical; Voltage-sensor; Name=S4 of repeat IVSequence analysisAdd
BLAST
Topological domaini1643 – 165715CytoplasmicSequence analysisAdd
BLAST
Transmembranei1658 – 168023Helical; Name=S5 of repeat IVSequence analysisAdd
BLAST
Topological domaini1681 – 174666ExtracellularSequence analysisAdd
BLAST
Transmembranei1747 – 177125Helical; Name=S6 of repeat IVSequence analysisAdd
BLAST
Topological domaini1772 – 2000229CytoplasmicSequence analysisAdd
BLAST

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi1970 – 19701Y → A: Abolishes interaction with NEDD4L. 1 Publication

Organism-specific databases

PharmGKBiPA35005.

Chemistry

ChEMBLiCHEMBL2096682.
DrugBankiDB06218. Lacosamide.
DB00313. Valproic Acid.
DB00909. Zonisamide.
GuidetoPHARMACOLOGYi580.

Polymorphism and mutation databases

BioMutaiSCN3A.
DMDMi25014054.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 20002000Sodium channel protein type 3 subunit alphaPRO_0000048493Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi211 – 2111N-linked (GlcNAc...)Sequence analysis
Glycosylationi290 – 2901N-linked (GlcNAc...)Sequence analysis
Glycosylationi296 – 2961N-linked (GlcNAc...)Sequence analysis
Glycosylationi302 – 3021N-linked (GlcNAc...)Sequence analysis
Glycosylationi307 – 3071N-linked (GlcNAc...)Sequence analysis
Glycosylationi339 – 3391N-linked (GlcNAc...)Sequence analysis
Modified residuei484 – 4841PhosphoserineBy similarity
Modified residuei485 – 4851PhosphoserineBy similarity
Modified residuei486 – 4861PhosphoserineBy similarity
Glycosylationi1366 – 13661N-linked (GlcNAc...)Sequence analysis
Glycosylationi1380 – 13801N-linked (GlcNAc...)Sequence analysis
Modified residuei1501 – 15011Phosphoserine; by PKCBy similarity

Post-translational modificationi

May be ubiquitinated by NEDD4L; which would promote its endocytosis.
Phosphorylation at Ser-1501 by PKC in a highly conserved cytoplasmic loop slows inactivation of the sodium channel and reduces peak sodium currents.By similarity

Keywords - PTMi

Glycoprotein, Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiQ9NY46.
PaxDbiQ9NY46.
PeptideAtlasiQ9NY46.
PRIDEiQ9NY46.

PTM databases

iPTMnetiQ9NY46.
PhosphoSiteiQ9NY46.

Expressioni

Gene expression databases

BgeeiQ9NY46.
CleanExiHS_SCN3A.
ExpressionAtlasiQ9NY46. baseline and differential.
GenevisibleiQ9NY46. HS.

Organism-specific databases

HPAiHPA035396.
HPA035397.

Interactioni

Subunit structurei

The sodium channel consists of a large polypeptide and 2-3 smaller ones. This sequence represents a large polypeptide. Interacts with NEDD4L.1 Publication

Protein-protein interaction databases

BioGridi112233. 6 interactions.
IntActiQ9NY46. 2 interactions.
MINTiMINT-8330038.
STRINGi9606.ENSP00000283254.

Chemistry

BindingDBiQ9NY46.

Structurei

3D structure databases

ProteinModelPortaliQ9NY46.
SMRiQ9NY46. Positions 1772-1924.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati110 – 455346ICuratedAdd
BLAST
Repeati742 – 1014273IICuratedAdd
BLAST
Repeati1188 – 1499312IIICuratedAdd
BLAST
Repeati1508 – 1806299IVCuratedAdd
BLAST
Domaini1900 – 192930IQPROSITE-ProRule annotationAdd
BLAST

Domaini

The sequence contains 4 internal repeats, each with 5 hydrophobic segments (S1,S2,S3,S5,S6) and one positively charged segment (S4). Segments S4 are probably the voltage-sensors and are characterized by a series of positively charged amino acids at every third position.

Sequence similaritiesi

Contains 1 IQ domain.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG2301. Eukaryota.
ENOG410XNP6. LUCA.
GeneTreeiENSGT00830000128242.
HOVERGENiHBG053100.
InParanoidiQ9NY46.
KOiK04836.
OMAiYFNGTMD.
OrthoDBiEOG7DJSK9.
PhylomeDBiQ9NY46.
TreeFamiTF323985.

Family and domain databases

Gene3Di1.20.120.350. 4 hits.
InterProiIPR027359. Channel_four-helix_dom.
IPR005821. Ion_trans_dom.
IPR000048. IQ_motif_EF-hand-BS.
IPR001696. Na_channel_asu.
IPR010526. Na_trans_assoc.
IPR024583. Na_trans_cytopl.
[Graphical view]
PfamiPF00520. Ion_trans. 4 hits.
PF06512. Na_trans_assoc. 1 hit.
PF11933. Na_trans_cytopl. 1 hit.
[Graphical view]
PRINTSiPR00170. NACHANNEL.
PROSITEiPS50096. IQ. 1 hit.
[Graphical view]

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Note: Exons 6A and 6N only differ by a single residue.

Isoform 1 (identifier: Q9NY46-1) [UniParc]FASTAAdd to basket

Also known as: 6A-12+12b

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MAQALLVPPG PESFRLFTRE SLAAIEKRAA EEKAKKPKKE QDNDDENKPK
60 70 80 90 100
PNSDLEAGKN LPFIYGDIPP EMVSEPLEDL DPYYINKKTF IVMNKGKAIF
110 120 130 140 150
RFSATSALYI LTPLNPVRKI AIKILVHSLF SMLIMCTILT NCVFMTLSNP
160 170 180 190 200
PDWTKNVEYT FTGIYTFESL IKILARGFCL EDFTFLRDPW NWLDFSVIVM
210 220 230 240 250
AYVTEFVSLG NVSALRTFRV LRALKTISVI PGLKTIVGAL IQSVKKLSDV
260 270 280 290 300
MILTVFCLSV FALIGLQLFM GNLRNKCLQW PPSDSAFETN TTSYFNGTMD
310 320 330 340 350
SNGTFVNVTM STFNWKDYIG DDSHFYVLDG QKDPLLCGNG SDAGQCPEGY
360 370 380 390 400
ICVKAGRNPN YGYTSFDTFS WAFLSLFRLM TQDYWENLYQ LTLRAAGKTY
410 420 430 440 450
MIFFVLVIFL GSFYLVNLIL AVVAMAYEEQ NQATLEEAEQ KEAEFQQMLE
460 470 480 490 500
QLKKQQEEAQ AVAAASAASR DFSGIGGLGE LLESSSEASK LSSKSAKEWR
510 520 530 540 550
NRRKKRRQRE HLEGNNKGER DSFPKSESED SVKRSSFLFS MDGNRLTSDK
560 570 580 590 600
KFCSPHQSLL SIRGSLFSPR RNSKTSIFSF RGRAKDVGSE NDFADDEHST
610 620 630 640 650
FEDSESRRDS LFVPHRHGER RNSNVSQASM SSRMVPGLPA NGKMHSTVDC
660 670 680 690 700
NGVVSLVGGP SALTSPTGQL PPEGTTTETE VRKRRLSSYQ ISMEMLEDSS
710 720 730 740 750
GRQRAVSIAS ILTNTMEELE ESRQKCPPCW YRFANVFLIW DCCDAWLKVK
760 770 780 790 800
HLVNLIVMDP FVDLAITICI VLNTLFMAME HYPMTEQFSS VLTVGNLVFT
810 820 830 840 850
GIFTAEMVLK IIAMDPYYYF QEGWNIFDGI IVSLSLMELG LSNVEGLSVL
860 870 880 890 900
RSFRLLRVFK LAKSWPTLNM LIKIIGNSVG ALGNLTLVLA IIVFIFAVVG
910 920 930 940 950
MQLFGKSYKE CVCKINDDCT LPRWHMNDFF HSFLIVFRVL CGEWIETMWD
960 970 980 990 1000
CMEVAGQTMC LIVFMLVMVI GNLVVLNLFL ALLLSSFSSD NLAATDDDNE
1010 1020 1030 1040 1050
MNNLQIAVGR MQKGIDYVKN KMRECFQKAF FRKPKVIEIH EGNKIDSCMS
1060 1070 1080 1090 1100
NNTGIEISKE LNYLRDGNGT TSGVGTGSSV EKYVIDENDY MSFINNPSLT
1110 1120 1130 1140 1150
VTVPIAVGES DFENLNTEEF SSESELEESK EKLNATSSSE GSTVDVVLPR
1160 1170 1180 1190 1200
EGEQAETEPE EDLKPEACFT EGCIKKFPFC QVSTEEGKGK IWWNLRKTCY
1210 1220 1230 1240 1250
SIVEHNWFET FIVFMILLSS GALAFEDIYI EQRKTIKTML EYADKVFTYI
1260 1270 1280 1290 1300
FILEMLLKWV AYGFQTYFTN AWCWLDFLIV DVSLVSLVAN ALGYSELGAI
1310 1320 1330 1340 1350
KSLRTLRALR PLRALSRFEG MRVVVNALVG AIPSIMNVLL VCLIFWLIFS
1360 1370 1380 1390 1400
IMGVNLFAGK FYHCVNMTTG NMFDISDVNN LSDCQALGKQ ARWKNVKVNF
1410 1420 1430 1440 1450
DNVGAGYLAL LQVATFKGWM DIMYAAVDSR DVKLQPVYEE NLYMYLYFVI
1460 1470 1480 1490 1500
FIIFGSFFTL NLFIGVIIDN FNQQKKKFGG QDIFMTEEQK KYYNAMKKLG
1510 1520 1530 1540 1550
SKKPQKPIPR PANKFQGMVF DFVTRQVFDI SIMILICLNM VTMMVETDDQ
1560 1570 1580 1590 1600
GKYMTLVLSR INLVFIVLFT GEFVLKLVSL RHYYFTIGWN IFDFVVVILS
1610 1620 1630 1640 1650
IVGMFLAEMI EKYFVSPTLF RVIRLARIGR ILRLIKGAKG IRTLLFALMM
1660 1670 1680 1690 1700
SLPALFNIGL LLFLVMFIYA IFGMSNFAYV KKEAGIDDMF NFETFGNSMI
1710 1720 1730 1740 1750
CLFQITTSAG WDGLLAPILN SAPPDCDPDT IHPGSSVKGD CGNPSVGIFF
1760 1770 1780 1790 1800
FVSYIIISFL VVVNMYIAVI LENFSVATEE SAEPLSEDDF EMFYEVWEKF
1810 1820 1830 1840 1850
DPDATQFIEF SKLSDFAAAL DPPLLIAKPN KVQLIAMDLP MVSGDRIHCL
1860 1870 1880 1890 1900
DILFAFTKRV LGESGEMDAL RIQMEDRFMA SNPSKVSYEP ITTTLKRKQE
1910 1920 1930 1940 1950
EVSAAIIQRN FRCYLLKQRL KNISSNYNKE AIKGRIDLPI KQDMIIDKLN
1960 1970 1980 1990 2000
GNSTPEKTDG SSSTTSPPSY DSVTKPDKEK FEKDKPEKES KGKEVRENQK
Length:2,000
Mass (Da):226,294
Last modified:November 8, 2002 - v2
Checksum:iF754A1C7D49ECB58
GO
Isoform 2 (identifier: Q9NY46-2) [UniParc]FASTAAdd to basket

Also known as: 6A-12

The sequence of this isoform differs from the canonical sequence as follows:
     625-673: Missing.

Show »
Length:1,951
Mass (Da):221,462
Checksum:iB692559143D6C8B5
GO
Isoform 3 (identifier: Q9NY46-3) [UniParc]FASTAAdd to basket

Also known as: 6N-12+12b

The sequence of this isoform differs from the canonical sequence as follows:
     208-208: S → D

Show »
Length:2,000
Mass (Da):226,322
Checksum:i167F971F19CC12CC
GO
Isoform 4 (identifier: Q9NY46-4) [UniParc]FASTAAdd to basket

Also known as: 6N-12

The sequence of this isoform differs from the canonical sequence as follows:
     208-208: S → D
     625-673: Missing.

Show »
Length:1,951
Mass (Da):221,490
Checksum:iA871C354C5535029
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti175 – 1751A → V in AAC29514 (PubMed:11245985).Curated
Sequence conflicti175 – 1751A → V in AAC29515 (PubMed:11245985).Curated
Sequence conflicti318 – 3181Y → N in AAC29514 (PubMed:11245985).Curated
Sequence conflicti318 – 3181Y → N in AAC29515 (PubMed:11245985).Curated
Sequence conflicti401 – 4011M → T in AAC29514 (PubMed:11245985).Curated
Sequence conflicti401 – 4011M → T in AAC29515 (PubMed:11245985).Curated
Sequence conflicti475 – 4751I → V in AAK00219 (Ref. 2) Curated
Sequence conflicti495 – 4951S → G in AAK00219 (Ref. 2) Curated
Sequence conflicti604 – 6041S → G in AAK00219 (Ref. 2) Curated
Sequence conflicti613 – 6131V → E in AAC29514 (PubMed:11245985).Curated
Sequence conflicti613 – 6131V → E in AAC29515 (PubMed:11245985).Curated
Sequence conflicti1060 – 10601E → A in AAC29514 (PubMed:11245985).Curated
Sequence conflicti1060 – 10601E → A in AAC29515 (PubMed:11245985).Curated
Sequence conflicti1163 – 11631L → F in AAK00219 (Ref. 2) Curated
Sequence conflicti1274 – 12741W → R in AAC29514 (PubMed:11245985).Curated
Sequence conflicti1274 – 12741W → R in AAC29515 (PubMed:11245985).Curated
Sequence conflicti1329 – 13291V → L in AAB30530 (PubMed:9589372).Curated
Sequence conflicti1414 – 14152AT → VS in AAC29514 (PubMed:11245985).Curated
Sequence conflicti1414 – 14152AT → VS in AAC29515 (PubMed:11245985).Curated
Sequence conflicti1614 – 16141F → S in AAK00219 (Ref. 2) Curated
Sequence conflicti1741 – 17433CGN → RGD in AAK00219 (Ref. 2) Curated
Sequence conflicti1862 – 18621G → C in AAK00219 (Ref. 2) Curated
Sequence conflicti1966 – 19661S → P in AAK00219 (Ref. 2) Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti43 – 431Missing .1 Publication
VAR_029743
Natural varianti606 – 6061S → T.1 Publication
VAR_014275
Natural varianti1107 – 11071V → A.
Corresponds to variant rs12474273 [ dbSNP | Ensembl ].
VAR_029744
Natural varianti1803 – 18031D → N.
Corresponds to variant rs3731762 [ dbSNP | Ensembl ].
VAR_055640
Natural varianti1813 – 18131L → S.1 Publication
VAR_029745

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei208 – 2081S → D in isoform 3 and isoform 4. 2 PublicationsVSP_001033
Alternative sequencei625 – 67349Missing in isoform 2 and isoform 4. 2 PublicationsVSP_001034Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ251507 mRNA. Translation: CAB85895.1.
AF225987 mRNA. Translation: AAK00219.1.
AF330135
, AF330118, AF330119, AF330120, AF330121, AF330122, AF330123, AF330124, AF330125, AF330126, AF330127, AF330128, AF330129, AF330130, AF330131, AF330132, AF330133, AF330134 Genomic DNA. Translation: AAG53414.1.
AF330135
, AF330118, AF330119, AF330120, AF330121, AF330122, AF330123, AF330124, AF330125, AF330126, AF330127, AF330128, AF330129, AF330130, AF330131, AF330132, AF330133, AF330134 Genomic DNA. Translation: AAG53415.1.
AC013463 Genomic DNA. Translation: AAY15072.1.
AF035685 mRNA. Translation: AAC29514.1.
AF035686 mRNA. Translation: AAC29515.1.
S69887 Genomic DNA. Translation: AAB30530.1.
AB037777 mRNA. Translation: BAA92594.1.
AF239921 mRNA. Translation: AAF44690.1.
CCDSiCCDS33312.1. [Q9NY46-3]
CCDS46440.1. [Q9NY46-2]
PIRiA54937.
RefSeqiNP_001075145.1. NM_001081676.1. [Q9NY46-4]
NP_001075146.1. NM_001081677.1. [Q9NY46-2]
NP_008853.3. NM_006922.3. [Q9NY46-3]
XP_006712742.1. XM_006712679.1. [Q9NY46-3]
XP_011509912.1. XM_011511610.1. [Q9NY46-3]
XP_011509913.1. XM_011511611.1. [Q9NY46-1]
UniGeneiHs.435274.

Genome annotation databases

EnsembliENST00000283254; ENSP00000283254; ENSG00000153253. [Q9NY46-3]
ENST00000360093; ENSP00000353206; ENSG00000153253. [Q9NY46-1]
ENST00000409101; ENSP00000386726; ENSG00000153253. [Q9NY46-2]
GeneIDi6328.
KEGGihsa:6328.
UCSCiuc002ucx.4. human. [Q9NY46-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ251507 mRNA. Translation: CAB85895.1.
AF225987 mRNA. Translation: AAK00219.1.
AF330135
, AF330118, AF330119, AF330120, AF330121, AF330122, AF330123, AF330124, AF330125, AF330126, AF330127, AF330128, AF330129, AF330130, AF330131, AF330132, AF330133, AF330134 Genomic DNA. Translation: AAG53414.1.
AF330135
, AF330118, AF330119, AF330120, AF330121, AF330122, AF330123, AF330124, AF330125, AF330126, AF330127, AF330128, AF330129, AF330130, AF330131, AF330132, AF330133, AF330134 Genomic DNA. Translation: AAG53415.1.
AC013463 Genomic DNA. Translation: AAY15072.1.
AF035685 mRNA. Translation: AAC29514.1.
AF035686 mRNA. Translation: AAC29515.1.
S69887 Genomic DNA. Translation: AAB30530.1.
AB037777 mRNA. Translation: BAA92594.1.
AF239921 mRNA. Translation: AAF44690.1.
CCDSiCCDS33312.1. [Q9NY46-3]
CCDS46440.1. [Q9NY46-2]
PIRiA54937.
RefSeqiNP_001075145.1. NM_001081676.1. [Q9NY46-4]
NP_001075146.1. NM_001081677.1. [Q9NY46-2]
NP_008853.3. NM_006922.3. [Q9NY46-3]
XP_006712742.1. XM_006712679.1. [Q9NY46-3]
XP_011509912.1. XM_011511610.1. [Q9NY46-3]
XP_011509913.1. XM_011511611.1. [Q9NY46-1]
UniGeneiHs.435274.

3D structure databases

ProteinModelPortaliQ9NY46.
SMRiQ9NY46. Positions 1772-1924.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi112233. 6 interactions.
IntActiQ9NY46. 2 interactions.
MINTiMINT-8330038.
STRINGi9606.ENSP00000283254.

Chemistry

BindingDBiQ9NY46.
ChEMBLiCHEMBL2096682.
DrugBankiDB06218. Lacosamide.
DB00313. Valproic Acid.
DB00909. Zonisamide.
GuidetoPHARMACOLOGYi580.

PTM databases

iPTMnetiQ9NY46.
PhosphoSiteiQ9NY46.

Polymorphism and mutation databases

BioMutaiSCN3A.
DMDMi25014054.

Proteomic databases

EPDiQ9NY46.
PaxDbiQ9NY46.
PeptideAtlasiQ9NY46.
PRIDEiQ9NY46.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000283254; ENSP00000283254; ENSG00000153253. [Q9NY46-3]
ENST00000360093; ENSP00000353206; ENSG00000153253. [Q9NY46-1]
ENST00000409101; ENSP00000386726; ENSG00000153253. [Q9NY46-2]
GeneIDi6328.
KEGGihsa:6328.
UCSCiuc002ucx.4. human. [Q9NY46-1]

Organism-specific databases

CTDi6328.
GeneCardsiSCN3A.
HGNCiHGNC:10590. SCN3A.
HPAiHPA035396.
HPA035397.
MIMi182391. gene.
neXtProtiNX_Q9NY46.
PharmGKBiPA35005.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2301. Eukaryota.
ENOG410XNP6. LUCA.
GeneTreeiENSGT00830000128242.
HOVERGENiHBG053100.
InParanoidiQ9NY46.
KOiK04836.
OMAiYFNGTMD.
OrthoDBiEOG7DJSK9.
PhylomeDBiQ9NY46.
TreeFamiTF323985.

Enzyme and pathway databases

ReactomeiR-HSA-445095. Interaction between L1 and Ankyrins.
R-HSA-5576892. Phase 0 - rapid depolarisation.

Miscellaneous databases

ChiTaRSiSCN3A. human.
GeneWikiiSCN3A.
GenomeRNAii6328.
PROiQ9NY46.
SOURCEiSearch...

Gene expression databases

BgeeiQ9NY46.
CleanExiHS_SCN3A.
ExpressionAtlasiQ9NY46. baseline and differential.
GenevisibleiQ9NY46. HS.

Family and domain databases

Gene3Di1.20.120.350. 4 hits.
InterProiIPR027359. Channel_four-helix_dom.
IPR005821. Ion_trans_dom.
IPR000048. IQ_motif_EF-hand-BS.
IPR001696. Na_channel_asu.
IPR010526. Na_trans_assoc.
IPR024583. Na_trans_cytopl.
[Graphical view]
PfamiPF00520. Ion_trans. 4 hits.
PF06512. Na_trans_assoc. 1 hit.
PF11933. Na_trans_cytopl. 1 hit.
[Graphical view]
PRINTSiPR00170. NACHANNEL.
PROSITEiPS50096. IQ. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Cloning, distribution and functional analysis of the human brain type III sodium channel from human brain."
    Chen Y., Dale T.J., Romanos M.A., Whitaker W.R., Xie X., Clare J.J.
    Submitted (DEC-1999) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
    Tissue: Brain.
  2. "Cloning of cDNA for human voltage-gated sodium channel alpha subunit, SCN3A."
    Jeong S.-Y., Goto J., Kanazawa I.
    Submitted (JAN-2000) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3).
  3. "Molecular determinants of voltage-gated sodium channel regulation by the Nedd4/Nedd4-like proteins."
    Rougier J.-S., van Bemmelen M.X., Bruce M.C., Jespersen T., Gavillet B., Apotheloz F., Cordonier S., Staub O., Rotin D., Abriel H.
    Am. J. Physiol. 288:C692-C701(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH NEDD4L, POSSIBLE UBIQUITINATION, MUTAGENESIS OF TYR-1970.
  4. "Genomic structures of SCN2A and SCN3A -- candidate genes for deafness at the DFNA16 locus."
    Kasai N., Fukushima K., Ueki Y., Prasad S., Nosakowski J., Sugata K., Sugata A., Nishizaki K., Meyer N.C., Smith R.J.H.
    Gene 264:113-122(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORMS 1; 2; 3 AND 4), VARIANT THR-606.
  5. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
    Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
    , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
    Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. "Isolation of a human-brain sodium-channel gene encoding two isoforms of the subtype III alpha-subunit."
    Lu C.M., Brown G.B.
    J. Mol. Neurosci. 10:67-70(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-1415 (ISOFORMS 2 AND 4).
    Tissue: Brain.
  7. "Targeted gene walking by low stringency polymerase chain reaction: assignment of a putative human brain sodium channel gene (SCN3A) to chromosome 2q24-31."
    Malo M.S., Srivastava K., Andresen J.M., Chen X.N., Korenberg J.R., Ingram V.M.
    Proc. Natl. Acad. Sci. U.S.A. 91:2975-2979(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1324-1413.
    Tissue: Placenta.
  8. "Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro."
    Nagase T., Kikuno R., Ishikawa K., Hirosawa M., Ohara O.
    DNA Res. 7:65-73(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1482-2000.
    Tissue: Brain.
  9. "Endogenous sodium current in HEK293 cells: increase in cell surface expression of endogenous currents by stable transfection of the Beta 1 subunit."
    Tonkovich G.S., Kyle J.W.
    Submitted (FEB-2000) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1669-1750.
    Tissue: Kidney.
  10. Cited for: VARIANTS ASN-43 DEL AND SER-1813.

Entry informationi

Entry nameiSCN3A_HUMAN
AccessioniPrimary (citable) accession number: Q9NY46
Secondary accession number(s): Q16142
, Q53SX0, Q9BZB3, Q9C006, Q9NYK2, Q9P2J1, Q9UPD1, Q9Y6P4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 21, 2001
Last sequence update: November 8, 2002
Last modified: July 6, 2016
This is version 156 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.